Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.
[cohen syndrome]
Cohen
syndrome
is
an
autosomal
recessive
disorder
that
is
characterized
by
mental
retardation
,
facial
dysmorphism
,
microcephaly
,
retinal
dystrophy
,
truncal
obesity
,
joint
laxity
and
intermittent
neutropenia
.
Mutations
in
the
VPS
13
B
(
COH
1
)
gene
underlie
Cohen
syndrome
.
In
approximately
70
%
of
the
patients
mutations
in
the
gene
are
identified
on
both
alleles
,
while
in
about
30
%
only
a
mutation
in
a
single
allele
or
no
mutant
allele
is
detected
.
The
VPS
13
B
locus
was
recently
added
to
the
growing
list
of
benign
copy
number
variants
.
We
hypothesized
that
patients
with
unexplained
Cohen
syndrome
would
harbour
deletions
affecting
the
VPS
13
B
locus
.
We
screened
35
patients
from
26
families
with
targeted
array
CGH
and
identified
7
copy
number
alterations
:
2
homozygous
and
5
heterozygous
deletions
.
Our
results
show
that
deletions
are
an
important
cause
of
Cohen
syndrome
and
screening
for
copy
number
alterations
of
VPS
13
B
should
be
an
integral
part
of
the
diagnostic
work-up
of
these
patients
.
These
findings
have
important
consequences
for
the
diagnosis
of
patients
with
genetic
disorders
in
general
since
,
as
we
highlight
,
rare
benign
copy
number
variants
can
underly
autosomal
recessive
disorders
and
lead
to
disease
in
homozygous
state
or
in
compound
heterozygosity
with
another
mutation
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated